ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4162G>C (p.Ala1388Pro)

dbSNP: rs1567068979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796360 SCV000935870 uncertain significance Bloom syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 1388 of the BLM protein (p.Ala1388Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003166139 SCV003892221 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-17 criteria provided, single submitter clinical testing The p.A1388P variant (also known as c.4162G>C), located in coding exon 21 of the BLM gene, results from a G to C substitution at nucleotide position 4162. The alanine at codon 1388 is replaced by proline, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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